Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

2016-09-07 16:23:21 | BioPortfolio


Genetic abnormalities in focal epilepsies are well known. A novel gene (DEPDC5) was identified, associated with various genotypes of epilepsies. Recently, DEPDC5 mutations were identified also inside focal cortical dysplasias. This could suggest that a somatic mutation in DEPDC5 could be responsible for the cortical dysplasia. The study aims to identify various genetic mutations responsible for drug-resistant focal epilepsies due to Focal cortical dysplasia in children undergoing surgery for epilepsies due to focal cortical dysplasias in Rothschild Foundation, Paris. Patients and their parents will be recruited to identify genetic abnormalities both in lymphocytic and cortical DNA.

Study Design

Observational Model: Family-Based, Time Perspective: Cross-Sectional


Cortical Dysplasia-Focal Epilepsy Syndrome


search for genetic abnormalities


Fondation Ophtalmologique Adolphe de Rothschld




Fondation Ophtalmologique Adolphe de Rothschild

Results (where available)

View Results


Published on BioPortfolio: 2016-09-07T16:23:21-0400

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Medical and Biotech [MESH] Definitions

A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.

A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)

Cortical malformations secondary to abnormal cortical maturation after CELL MIGRATION in NEUROGENESIS. This group includes injury to the cortex during later stages of cortical development such as POLYMICROGYRIA and focal cortical dysplasias.

Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.

Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal CELL PROLIFERATION or APOPTOSIS; abnormal neuronal migration; and abnormal establishment of cortical organization via neurite extension, synaptogenesis, or neuronal maturation. As well as mutations effecting these developmental processes directly, there are a variety of inborn metabolic errors, such as PEROXISOMAL DISORDERS and mitochondrial and pyruvate metabolic disorders which effect them secondarily and also exhibit these malformations. They are common causes of EPILEPSY and developmental delay and are often a component of multiple congenital anomalies.

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